Free for academic non-profit institutions. Other users need a Commercial license
The protein encoded by this gene possesses kinase activity that phosphorylates regulators involved in signal transduction. It phosphorylates I kappa-Balpha, p105, and c-Jun. It acts as a docking site for complex-mediated phosphorylation. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
COPS3 (COP9 Signalosome Subunit 3) is a Protein Coding gene. Diseases associated with COPS3 include Smith-Magenis Syndrome and Episodic Pain Syndrome, Familial, 3. Among its related pathways are Vesicle-mediated transport and Transcription-Coupled Nucleotide Excision Repair (TC-NER). An important paralog of this gene is PSMD3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 11418127 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005737 | cytoplasm | IEA,TAS | 9535219 |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0008180 | COP9 signalosome | IEA,IDA | 18850735 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
2 | Clathrin-mediated endocytosis | ||
3 | Vesicle-mediated transport | ||
4 | DNA Double-Strand Break Repair |
.53
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000338 | protein deneddylation | IDA | 19141280 |
GO:0000715 | nucleotide-excision repair, DNA damage recognition | TAS | -- |
GO:0001701 | in utero embryonic development | IEA | -- |
GO:0006283 | transcription-coupled nucleotide-excision repair | TAS | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 14b | · | 14c | · | 14d |
---|---|---|---|---|---|
SP1: | |||||
SP2: | |||||
SP3: | |||||
SP4: | |||||
SP5: | |||||
SP6: | |||||
SP7: | |||||
SP8: | |||||
SP9: | |||||
SP10: | |||||
SP11: | |||||
SP12: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COPS3 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COPS3 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COPS3 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COPS3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Cops3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Cops3 30 |
|
||
Cow (Bos Taurus) |
Mammalia | COPS3 30 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COPS3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COPS3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cops3 30 |
|
||
Str.11176 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | cops3-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cops3 30 31 |
|
OneToOne | |
wufk59f01 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.684 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006445 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CSN3 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | csn-3 31 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | COP13 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.7012 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os08g0119000 30 |
|
||
Wheat (Triticum aestivum) |
Liliopsida | Ta.2898 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.1915 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs11549132 | Benign: not provided | 17,281,181(-) |
C/T NM_003653.4(COPS3):c.6G>A (p.Ala2=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
rs553573176 | Likely Benign: not provided | 17,249,049(-) |
G/A NM_003653.4(COPS3):c.1024-10C>T |
INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
smith-magenis syndrome |
|
|
episodic pain syndrome, familial, 3 |
|
|
bone angioendothelial sarcoma |
|
|
juxtacortical osteosarcoma |
|
|
peripheral osteosarcoma |
|
|